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91 Possible Causes for Early-Onset Severe Scoliosis, High Inter- and Intrafamiliar Variability of Phenotype, Sensorineural Hearing Loss Associated with ELSTs

  • Von Hippel-Lindau Disease

    ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] The majority of the patients had associated audiovestibular symptoms, including sensorineural hearing loss (84% of ears), tinnitus (73%), and vertigo (68%) that did not correlate[journal.frontiersin.org] Respiratory Lung: pulmonary hemangiomas Abdomen Pancreas: multiple pancreatic cysts pancreatic hemangioblastoma Head And Neck Ears: vertigo tinnitus endolymphatic sac tumors (elsts[malacards.org]

    Missing: Early-Onset Severe Scoliosis
  • Charcot-Marie-Tooth Disease Type 4C
    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Cystitis

    […] in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997).[ncbi.nlm.nih.gov] Bruck syndrome 1 MedGen UID: 342431 •Concept ID: C1850168 • Disease or Syndrome Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Scoliosis

    Untreated early onset scoliosis can lead to very severe deformities and respiratory compromise.[cincinnatichildrens.org] Magnetic controlled growth rods (MCGRs) are increasingly popular for surgical treatment of severe early-onset scoliosis (EOS), because they allow noninvasive extensions with[ncbi.nlm.nih.gov] S coliosis can develop very early on in childhood. There are several different types of Early Onset Scoliosis “Idiopathic” means of unknown cause.[bcchildrens.ca]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Cystocele

    […] in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997).[ncbi.nlm.nih.gov] Bruck syndrome 1 MedGen UID: 342431 •Concept ID: C1850168 • Disease or Syndrome Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Haddad Syndrome

    The hyperextensibility may result in early onset of degenerative joints disease.[ncbi.nlm.nih.gov] Scoliosis of variable severity is observed in approximately 60% of patients. Anomalies of dentinogenesis are possible manifestations.[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • CHARGE Syndrome

    CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth[…][en.wikipedia.org]

    Missing: Early-Onset Severe Scoliosis Sensorineural Hearing Loss Associated with ELSTs
  • Joint Subluxation

    […] gene) Kyphoscoliosis Generalized joint laxity, severe muscle hypotonia, scoliosis, scleral fragility Tissue fragility, easy bruising, arterial rupture, Marfanoid habitus,[ncbi.nlm.nih.gov] onset varicose veins, arteriovenous fistulae, pneumothorax, gingival recession, positive family history Autosomal dominant Structural defects of type III collagen ( COL3A1[ncbi.nlm.nih.gov] […] arterial, intestinal, or uterine fragility; extensive bruising; characteristic facial appearance Acrogeria, small joint hypermobility, tendon or muscle rupture, clubfoot, early[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Coxa Vara

    […] in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997).[ncbi.nlm.nih.gov] Bruck syndrome 1 MedGen UID: 342431 •Concept ID: C1850168 • Disease or Syndrome Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Bruck Syndrome

    […] congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia[malacards.org] OMIM : 57 Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb[malacards.org] Get Update Overview Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe[diseaseinfosearch.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs